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凝血因子Ⅺ缺陷症的研究进展 被引量：11

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摘要 凝血因子Ⅺ（factorⅪ，FⅪ）缺陷症在1953年由Rosenthal等首次报道。其是一种常染色体隐性遗传性出血病。曾被称为血友病C。与血友病A和B相比，FⅪ缺陷症患者发病无性别差异，且出血症状较轻，一般无自发性出血，其出血常与创伤及手术相关，特别是凝血因子Ⅺ促凝活性（factorⅪclottingactivitv，FⅪ：C）的血浆水平与出血发生率及出血程度间无明显相关性，使该疾病的诊断和治疗存在多变性。本文就FⅪ缺陷症的临床特点和分子发病机制的研究进展作一综述。
作者 董雷鸣 王学锋 王鸿利
机构地区 上海交通大学医学院附属瑞金医院检验系 上海交通大学医学院附属瑞金医院输血科 上海交通大学医学院附属瑞金医院上海血液学研究所
出处 《诊断学理论与实践》 2009年第4期431-434,共4页 Journal of Diagnostics Concepts & Practice
关键词 凝血因子Ⅺ 凝血因子Ⅺ缺陷症 基因突变
分类号 R554.1 [医药卫生—血液循环系统疾病]
  • 相关文献

参考文献26

  • 1Papagrigoriou E,McEwan PA,Walsh PN,et al.Crystal structure of the factor XI zymogen reveals a pathway for transactivation[J].Nat Struct Mol Biol,2006,13(6):557-558.
  • 2Gomez K,McVey JH.Tissue factor initiated blood coagulation[J].Front Biosci,2006,11:1349-1359.
  • 3Keularts IM,Zivelin A,Seligsohn U,et al.The role of factor Ⅺ in thrombin generation induced by low concentrations of tissue factor[J].Thromb Haemost,2001,85(6):1060-1065.
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二级参考文献8

  • 1Ariella Z, Frederic B, Louis D, et al. Factor Ⅺ deficiency in French Basques is caused predominantly by an ancestral Cys38Arg motation in the Faetor Ⅺ gene. Blood,2002,99:2448-2454.
  • 2Baglia FA,Walsh PN. Thrombin-mediated feedback activation of factor Ⅺ on the activated platelet surface is preferred over contact activalion by factor Ⅻ a or factor Ⅺ　a. J Biol Chem, 2000,275: 20514-20519.
  • 3Imanaka Y, Lal K, Nishimura T, et al. Identification of two novel mutations in non-Jewish factor Ⅺ deficiency. Br J Haematol, 1995,90:916-920.
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  • 5Lijima K,Udagawa A, Kawasaki H,et al. A factor Ⅺ deficiency associated with a nonsense mutation (Trp501stop) in the catahtic domain. Br J Haenlatol,2000, 11:556-558.
  • 6Ventura C ,Santos AIM ,Tavares A,et al. Molecular genetic analysis of factor Ⅺ deficiency:identification of five novel gene alterations and the origin of type Ⅱ mutation in Portuguese families. Thromb Haemost, 2000,84 : 833-840.
  • 7Dossenbach-Glaninger A, Krugluger W, Schrattbauer K, et al. Severe factor Ⅺ deficiency caused by compound heterozygosity for the type Ⅲ mutation and a novel insertion in exon 9( codons 324/325 + G).Br J Haematol ,2001 , 114:875-877.
  • 8Cartegni L, Chew SL, Krainer AR. Listening to silence and uuderstanding nonsense:exonie mutations that affect splicing. Nat Rev Genet, 2002,3:285-298.

共引文献22

同被引文献50

  • 1谢爽,王鸿利,王学锋,武文漫,周荣富,王文斌,胡翊群,王振义.凝血因子Ⅺ基因内含子区受位剪切位点突变导致的遗传性凝血因子Ⅺ缺陷症[J].中华血液学杂志,2005,26(3):144-147. 被引量：13
  • 2Souabni L,Meddeb N,Ajlani H,et al.Hemarthrosis revealing con-genital factor XI deficiency.Joint Bone Spine,2008,75(3):348-349.
  • 3Pugh RE,McVey JH,Tuddenham EG,et al.Six point mutations that cause factor XI deficiency.Blood,1995,85(6):1509-1516.
  • 4Quélin F,Frère C,Pouymayou C,et al.Prospective analysis of fac-tor XI deficiencies in the Marseilles area identified four novel muta-tions among12consecutive unrelated families.Blood Coagul Fibri-nolysis,2009,20(1):84-88.
  • 5Mitchell M,Mountford R,Butler R,et al.Spectrum of Factor XI(F11)Mutations in the UK Population–116Index Cases and 140Mutations.Hum Mutat,2006,27(8):829.
  • 6Papagrigoriou E,McEwan PA,Walsh PN,et al.Crystal structure of the factor XI zymogen reveals a pathway for transactivation.Nat Struct Mol Biol,2006,13(6):557-558.
  • 7Lin SY,Su YN,Hung CC,et al.Mutation spectrum of122hemo-philia A families from Taiwan Residents population by LD-PCR,DHPLC,multiplex PCR and evaluating the clinical application of HRM.BMC Med Genet,2008,20(9):53.
  • 8Poon MC, Luke KH. Haemophilia care in China : achievements of a decade of World Federation of Hemophilia treatment centre twin- ning activities[J]. Haemophilia, 2008,14(5) :879-888.
  • 9Papagrigoriou E, McEwan PA, Walsh PN, et al. Crystal structure of the factor Ⅺ zymogen reveals a pathway for transactivation[ J]. Nat Struct Mol Biol, 2006,13(6) :557-558.
  • 10Keularts IM, Zivelin A, Seligsohn U, et al. The role of factor :Ⅺ in thrombin generation induced by low concentrations of tissue fac- tor[ J 3. Thromb Haemost, 2001,85 (6) : 1060-1065.

引证文献11

二级引证文献22

诊断学理论与实践
2009年 第4期

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